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Unlike other U\u2010<jats:styled-content style=\"fixed-case\">snRNAs<\/jats:styled-content>, it reveals many distinctive aspects of biogenesis such as transcription by <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> polymerase <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>, transcript nuclear retention and particular features of transcript ends: monomethylated 5\u2032\u2010guanosine triphosphate as cap structure and a 2\u2032,3\u2032\u2010cyclic phosphate moiety (&gt;P) at the 3\u2032 termini. <jats:styled-content style=\"fixed-case\">U6\u2010snRNA<\/jats:styled-content> plays a central role in splicing and thus its transcription, maturation, <jats:styled-content style=\"fixed-case\">snRNP<\/jats:styled-content> formation, and recycling are essential for cellular homeostasis. <jats:styled-content style=\"fixed-case\">U6 snRNA<\/jats:styled-content> enters the splicing cycle as part of the tri\u2010<jats:styled-content style=\"fixed-case\">U4<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">U6<\/jats:styled-content>.<jats:styled-content style=\"fixed-case\">U5snRNP<\/jats:styled-content> complex, and after significant structural arrangements forms the catalytic site of the spliceosome together with <jats:styled-content style=\"fixed-case\">U2 snRNA<\/jats:styled-content> and Prp8. <jats:styled-content style=\"fixed-case\">U6 snRNA<\/jats:styled-content> also contributes to the splicing reaction by coordinating metal cations required for catalysis. Many human diseases are associated with altered splicing processes. Disruptions of the basal splicing machinery can be lethal or lead to severe diseases such as spinal muscular atrophy, amyotrophic lateral sclerosis, or retinitis pigmentosa. Recent studies have identified a new <jats:styled-content style=\"fixed-case\">U6 snRNA<\/jats:styled-content> biogenesis factor Usb1, the absence of which leads to poikiloderma with neutropenia (<jats:styled-content style=\"fixed-case\">PN<\/jats:styled-content>) (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 604173), an autosomal recessive skin disease. Usb1 is an evolutionarily conserved 3\u2032\u21925\u2032 exoribonuclease that is responsible for removing 3\u2032\u2010terminal uridines from <jats:styled-content style=\"fixed-case\">U6 snRNA<\/jats:styled-content> transcripts, which leads to the formation of a 2\u2032,3\u2032 cyclic phosphate moiety (&gt;P). This maturation step is fundamental for <jats:styled-content style=\"fixed-case\">U6 snRNP<\/jats:styled-content> assembly and recycling. Usb1 represents the first example of a direct association between a spliceosomal <jats:styled-content style=\"fixed-case\">U6 snRNA<\/jats:styled-content> biogenesis factor and human genetic disease.<jats:italic>WIREs RNA<\/jats:italic> 2013, 4:581\u2013592. doi: 10.1002\/wrna.1181<\/jats:p><jats:p>This article is categorized under:\n<jats:list list-type=\"explicit-label\">\n<jats:list-item><jats:p>RNA Processing &gt; 3' End Processing<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>RNA in Disease and Development &gt; RNA in Disease<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/wrna.1181","type":"journal-article","created":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T20:12:49Z","timestamp":1371240769000},"page":"581-592","source":"Crossref","is-referenced-by-count":54,"title":["<scp>U6 RNA<\/scp> biogenesis and disease 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